Michael J. Bamshad
YOU?
Author Swipe
View article: Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles
Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles Open
Nonsense-mediated decay (NMD) as an RNA-surveillance pathway degrades transcripts with variants introducing premature termination codons (i.e., PTC-variants), yet a substantial subset of pathogenic PTC-variants downstream of the final exon…
View article: Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions Open
Identifying pathogenic non-coding variants that contribute to Mendelian conditions remains challenging as the functional impact of these variants on gene function is often unknown. We present IsoRanker, a long-read transcriptome sequencing…
View article: GREGoR: accelerating genomics for rare diseases
GREGoR: accelerating genomics for rare diseases Open
View article: Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. Open
Otitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.We performed exome and Sanger sequencing o…
View article: Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX Open
View article: MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric Open
View article: Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis Open
View article: Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients Open
View article: Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Open
View article: Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX Open
Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause dis…
View article: MagicalRsq: Machine-learning-based genotype imputation quality calibration
MagicalRsq: Machine-learning-based genotype imputation quality calibration Open
View article: SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns Open
View article: Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition Open
View article: <i>CHP2</i> Modifies Chronic <i>Pseudomonas aeruginosa</i> Airway Infection Risk in Cystic Fibrosis
<i>CHP2</i> Modifies Chronic <i>Pseudomonas aeruginosa</i> Airway Infection Risk in Cystic Fibrosis Open
Rationale: Chronic Pseudomonas aeruginosa (Pa) airway infection is common and a key contributor to diminished lung function and early mortality in persons with cystic fibrosis (PwCF). Risk factors for chronic Pa…
View article: P591: Parental needs during pediatric whole genome sequencing for developmental disorders: An interview study
P591: Parental needs during pediatric whole genome sequencing for developmental disorders: An interview study Open
View article: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Open
View article: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Open
View article: 6398 Activating Mutations in a Primate-Specific Enhancer of MIR7-2/MIR1179 Are a Common Cause of Resistance to Thyrotropin
6398 Activating Mutations in a Primate-Specific Enhancer of MIR7-2/MIR1179 Are a Common Cause of Resistance to Thyrotropin Open
Disclosure: H. Grasberger: None. A. Dumitrescu: None. X. Liao: None. E. Swanson: None. R.E. Weiss: None. P. Srichomkwun: None. T. Pappa: None. J. Chen: None. T. Yoshimura: None. P. Hoffmann: None. M. Franca: None. K. Onigata: None. S. Cost…
View article: Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia Open
Pathogenic variants in the transcription factor TP63 are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymp…
View article: Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder Open
View article: The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants Open
ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants …
View article: Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing Open
View article: Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Open
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functio…
View article: Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans Open
Nucleic acid–sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopathology. Here, we …
View article: STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 Open
View article: Table of Contents
Table of Contents Open
View article: MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric Open
View article: CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease Open
Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which ~80% of cases have a genetic explanation, while the genetic basis of sporadic cystic kidney disease in adults remains unclear in ~30% of cases. Thi…
View article: Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Open
Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a bi…
View article: Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications Open